Canonical Allele Identifier: CA287230643
Gene: PFN1 HGNC NCBI

Linked Data

dbSNP Id: rs923063598
gnomAD v2: 17-4849123-G-T
gnomAD v3: 17-4945828-G-T
gnomAD v4: 17-4945828-G-T
MyVariant Identifiers: chr17:g.4849123G>T (hg19) chr17:g.4945828G>T (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.4945828G>T , CM000679.2:g.4945828G>T GRCh38
NC_000017.10:g.4849123G>T , CM000679.1:g.4849123G>T GRCh37
NC_000017.9:g.4789868G>T NCBI36
NG_012063.2:g.4738G>T
NG_032945.1:g.8259C>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000225655.6:c.*72C>A MANE Select ENSP00000225655.5:n.*72C>A
ENST00000225655.5:c.*72C>A ENSP00000225655.5:n.*72C>A
ENST00000574872.1:c.*72C>A ENSP00000465019.1:n.*72C>A
NM_005022.3:c.*72C>A NP_005013.1:n.*72C>A
XM_017024761.1:c.*579C>A XP_016880250.1:n.*579C>A
NM_001375991.1:c.*579C>A NP_001362920.1:n.*579C>A
NM_005022.4:c.*72C>A MANE Select NP_005013.1:n.*72C>A
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